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Seven Decades of Autism Research : 1943-2013

Seven Decades of Autism Research : 1943-2013. How far have we come and where do we go next ? Patricia Howlin Tønsberg , June 2014. 1. Classification 2. Causes and mechanisms 3 . Interventions 4. Autism in adulthood. 1.Classification- what we used to believe. (i) A rare condition

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Seven Decades of Autism Research : 1943-2013

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  1. Seven Decades of Autism Research : 1943-2013 How far have we come and where do we go next? Patricia Howlin Tønsberg , June 2014

  2. 1. Classification • 2. Causes and mechanisms • 3. Interventions • 4. Autism in adulthood

  3. 1.Classification- what we used to believe • (i) A rare condition • (ii) Mainly associated with intellectual disability • (iii)Three core domains of impairment • communication; social; ritualistic and stereotyped behaviours • (iv) A distinct disorder; not associated with other conditions (e.g. Down syndrome; cerebral palsy; ADHD)

  4. What we know now- • (i) Not rare: occurs in ≥1% of population or more (U.S.Center for Disease Control & Prevention; CDC, 2014) • (ii). Association with intellectual disability less than originally proposed • Wide intellectual range • Significant proportion have IQ≥70; (~40%; Charman et al., 2011)

  5. (iii) How many core domains? • DSM III/IV - combination of 3 core domains (Social; communication; repetitive behaviours) required for diagnosis • More recently- suggestion that these have separate genetic/ phenotypic basis (i.e. are “fractionable”) Happe- & Ronald (2008; Leekham et al., 2011) • DSM -5 combines deficits in communication and social interaction (individuals with autism almost always have both ) • Skuse et al., 2013- ASD a dyad, not a triad,with distinct social communication and repetitive behavior dimensions (the latter including sensory abnormalities)

  6. How will DSM-5 affect autism diagnosis ? Kulage et al., 2014 • Review of 418 studies; 14 meeting inclusion criteria • Decreases in ASD diagnosis (range 7.3%–68.4 %) using DSM-5 criteria. • Significant pooled decreases in • ASD -31 % (20%–44%), • PDD-NOS -70 % (55%–82%) • Asperger’s disorder pooled decrease not significant (26%–94%) • “DSM-5 will likely decrease numbers diagnosed with ASD, particularly in PDD-NOS subgroup. • Research needed on policies regarding services for • individuals lacking diagnosis but requiring assistance”.

  7. BUT… • Wide range of figures • Diagnosis should be based on clinical judgement guided by specific criteria but not solely based on checklists etc. • 2013-2014: Is one year enough to tell?

  8. Autism Speaks = • “All individuals with a current ASD diagnosis including Asperger syndrome & PDD-NOS, will not lose their ASD diagnosis…… • ..In other words… a diagnosis of ASD is for life and you should be entitled to appropriate interventions for the rest of your life…..  No one should be reevaluated or “lose” their diagnosis because of administrative reasons of the DSM-5.” Will services take the same view?… is there a legal obligation to do so?

  9. Other concerns • What happens to those who get given a diagnosis of Social communication disorder (= PDD-NOS?) • Very young children may not meet RRB (x2) criteria • Will it affect rates of diagnosis in women? • High functioning people may lose their diagnosis and their support (Volkmar et al., 2012) • People with Asperger syndrome • loss of identity; loss of practical, social and financial support support; be forced to undergo re-diagnosis • How will DSM-5 relate to ICD-11 • ? 3 domains; one condition?

  10. Levels of severity??? • Requiring very substantial support • Requiring substantial report • Requiring support • Concerns re consistency of use/interpretation; • Danger of limited provision/ reduced financial help for those who are not in need of “substantial support” • Amount of support varies over time/contexts

  11. Time and unbiased research needed to get the balance right • Need to ensure that • People with Asperger syndrome or PDD diagnoses do not lose services • Individuals with Asperger syndrome do not lose their identity or social structures • Individuals and their families are not deprived of the support they need • Only time and adequate prospective research will tell Autism Speaks survey – for anyone using or affected by the new criteria– either directly or indirectly. www.autismspeaks.org/dsm5

  12. (iv) Autism a distinct disorder? • Links with many genetic conditions • Autism & ADHD • Autism and schizophrenia

  13. 2. Causes and mechanisms • Genes vs. environment • “Autism among the most heritable of neurodevelopmental disorders” (Rutter, 1990’s) but recognised that finding the environmental genes for autism would be even more complex than identifying the genes involved • Susceptibility to ASD has moderate genetic heritability and a substantial shared twin environmental component (Hallmayer et al., 2011)

  14. Environmental factors can cause changes in DNA that increase risk for autism. • de novo mutations may be due to environmental effects - • spontaneous mutations in autism correlate with paternal age (boys with autism 6x more likely to have a father in his 40s vs. his 20s; in girls association is 17x more likely) Sanders et al.Nature 2012 • These can then be passed to the next generation, raising the risk for developing autism. • ? Does the rise in parental age explain – at least partly- the increasing prevalence of autism – but association complex (e.g. having 2 older parents rather than just one does not increase the risk)

  15. Mechanisms- many different theories proposed • E.g.Theoryof mind; Executive Functioning; Weak Central Coherence; mirror neurone deficits • Difficulties change with age; found in many other conditions • TOM describes, but doesn’t fully explain all the social/communication/ empathy difficulties or ritualistic/ stereotyped behaviours (Fisch, 2013) • Better mind-reading may= more mental health problems • Focussed cognitive style may = >special skills but more sensory sensitivities

  16. Baby sibling studies • Explore how development, across many domains, unfolds over the early years in infants at risk of autism: • orienting to faces; eye-gaze and social monitoring; affective and social responses; vocalizations • neural responses to social stimuli • Also range of possible non-social differences Few initial differences before12 months between no-risk; sibs who do/do not develop autism- some emerge later Implications for intervention???

  17. 3. Interventions: Evidence from randomised control trials (mainly pre-schoolers; clinic and/or home based) • EIBI (Smith et al.,2000) • Early Start Denver (Dawson, Rogers et al., 2010; 2012) • Joint attention/symbolic play (Kasari et al; 2005; 2008; 2010; Schertz, 2013; Yoder & Stone, 2006) • Parent- child reciprocity (Green et al., 2010) • PECS (Yoder & Stone, 2006; Howlin et al., 2007) • Training in Behavioural Management (Jocelyn et al.1998; Tonge et al.,2006; Roberts; 2011) • Triple P (Stepping Stones Programme) (Whittington et al., 2009)

  18. Social interventions – mainly 6yrs + Social stories (Kokina & Kern, 2010; Karkhaneh et al., 2010 Social skills groups; peer intervention programmes e.g. Beaumont & Sofronoff, 2008; Begeer, 2011; Fisher & Happe,200; Koenig et al.2010; Laugeson et al, 2009, 2010, 2013; ; Lopata et al, 2010; de Rossier et al., Silver & Oaks, 2011) Digital technologies(to enhance “Theory of Mind”; emotional processing etc. Bölteet al., Baron Cohen et al;) Oxytocin (Reviews: Flynn & Healy, 2012; Fletcher –Watson 2014) Cappadocia & Weiss, 2011; Kamdalaft, 2013; Kasari & Patterson, 2012; Palmen et al., 2012)

  19. No evidence that any one high quality specific intervention superior to another • Great variation in treatment response (child/domains assessed) • Social skills – little evidence of impact in real life settings • High technology- further isolates the most disadvantaged • All interventions – limited data on long term effects; generalization to new skills/new settings

  20. Long-term impact?? “EIBI saves up to $2.500,000” over the lifetime. (Jacobson et al., 1998; Sanober et al., 2006; Chasson et al., 2007) In fact : no evidence of long-term impact or significant improvements in functioning in later childhood/adolescence Most studies follow-up limited to 6-12 months. Few longer term studies Kasari et al. (2012), Reduced difference in un/treated groups after 5 years (when individual baseline characteristics played a more significant role)

  21. Different approaches needed at different stages Early interventions may do best to focus on: social communication mother child interaction- parent-child synchrony/ joint attention Object exploration; symbolic play Later: Parent training in behaviour management Direct behavioural therapy with child (though intensity and duration controversial) Cognitive skills Non-verbal communication (e.g. PECS) for those who have not developed language Social rules More subtle social-communication skills

  22. Factors related to outcome? Symptom severity (findings inconsistent Age at start of treatment (little controlled research) Personality?? temperament??. Other family characteristics (racial, cultural, intellectual, social, financial, genetic)??? Individual genetic variation

  23. BUT: Some variables predictive of good outcome in some studies not predictive in others • Functional object use, object exploration , range of functional play among best predictors of response to interventions with a focus on social interaction/reciprocity/joint attention (Vivanti et al., 2012; Kasari et al., 2012; Yoder et al., 2006) Hanen More than Words (Carter et al., 2011) • Home & group based parent training programme • 62 toddlers (15-25 months) • Children with higher rates of object exploration pre-treatment made less progress than non-treatment group.

  24. Kasari & Patterson(2012) • We continue to focus on select samples of children, often high functioning & middle class whose families have the resources to participate in clinic studies… • The vast majority of children with ASD are not represented in research (those with co-morbidities; non-English speaking; minimally verbal; ethnically & culturally diverse groups. • Future studies should include underserved & under-represented populations to broaden our understanding of intervention effectiveness for children with ASD

  25. 4. Autism in adulthoodFew intervention studies; generally low quality research , Edwards et al., 2012 146 intervention studies: 2009-2011

  26. Shattuck et al. (2012) Of 11,000 studies on ASD (2000-2010) only 23 on interventions/ services for adults Bishop- Fitzpatrick et al. (2013) Review of 1217 papers on adults (1950-2011) only 13 on psycho-social interventions meeting adequate experimental criteria The Challenge and Promise of Autism Spectrum Disorders in Adulthood and Aging: A Systematic Review (1990-2013) ( Wright, Brooks, D’Astous & Grandin, 2013)

  27. Adults with ASD in UK (Adult Psychiatric Morbidity Survey, 2012; 2007 Brugha et al.) Prevalence: Total population 1.1% (2.0% males; .3% females) N∼ 400,000 in UK As a group (including those of normal IQ) Socially disadvantaged; unmarried, living on benefits and in social housing Educationally less well qualified Under-supported by social, educational, welfare and health services In the lowest quintile for social deprivation Life time cost of autism £3.1million per higher functioning person; £4.6m for lower functioning; Knapp et al., 2007 ($3.1 m in US; Ganz 2007)

  28. Transition to adulthood: Positive aspects • Overall reduction in autism symptomatology from child- adulthood (majority show < scores on ADI; only minority worsen) • Decrease in repetitive and stereotyped behaviours in older adults (22-50 years) • Improvement in social reciprocity in adolescents/ young adults (10-21 years) • Decrease in problem behaviours: some follow-up studies = 30 to >40% of participants show marked improvements in late adolescence/early adulthood • Kanner, 1973;; Howlin et al., 2013; Mawhood et al., 2002; Farley et al., 2009; Seltzer et al., 2009; 2010

  29. Transition to adulthood: Negative aspects • Low rates of employment (~60% in sheltered workshops/day activity centres ) even compared with individuals with ID or other developmental disorders • Adult day activities lower quality than educational activities in school • Adults of normal IQ significantly LESS likely to have a structured day time activity than those with intellectual impairment • Difficulties post school persist into later adult-hood (i.e. not just a short term problem) Howlin et al., 2013; Magiati et al., 2014; Roux et al., 2014; Seltzer et al., 2009; 2010; Taylor & Mailick, 2012

  30. Adult trajectories : Positive: at an individual level evidence of improvement – gains in skills, decreases in autism severity Negative: at societal level failure to offer an environment that capitalises on these opportunities for change and development

  31. Recent reviews National Institute for Health and Clinical Excellence (NICE) Guideline on Recognition, Referral, Diagnosis and Management of Adults on the Autism Spectrum (>9,500 studies) www.nice.org.uk Agency for Healthcare Research and Quality (AHRQ) Lounds Taylor et al. Interventions for Adolescents and Adults with ASD. Comparative effectiveness Review No 65 (>4,800 studies) www.effectivehealthcare.ahrq.gov.

  32. Very small number of studies (30- 50) meeting basic research criteria- • Clear specification of population • ASD diagnosis, age >15 yrs • Clear specification of intervention, outcome • Comparison group/treatment • RCT (if none then quasi experimental or case series design) • Minimum sample size (≥10) • Most of these rated as low/very low quality (high risk of bias; inadequate controls; small effect size; inconsistent findings etc.)

  33. a). Core autism deficits- i) Communication problems Ritualistic and Stereotyped Behaviours Few adequate group comparisons or RCT studies But- large number of single case/small group studies indicating the effectiveness of behavioural strategies

  34. ii) Social problems Social skills training Adolescents ( Hillier, 2007; Laugeson et al.(UCLA PEERs project) , 2009/2011; Tse et al., 2007) Adults (Verhoeven et al.,2011) Theory of Mind Adolescents (Begeer et al., 2011) Adults (Bölte et al., 2002; Faja et al., 2012; Golan et al., 2006). Cognitive Behavioural Adolescents- social skills (Bauminger, 2003); social anxiety (Beaumont & Sofronoff, 2008)

  35. Evidence inconsistent: • Programmes very variable; mostly higher IQ groups; little generalization or impact on wider emotional understanding; some studies = positive impact on social skills, others = no effect. No studies of functioning in real-life settings (Burgess & Turkstra, 2006; Rao et al., 2006; White 2004).

  36. iii). Adaptive skills • Most studies of individuals with intellectual disability • Some improvements in daily living skills using structured training programme(Matson, 1981); Other specific interventions (e.g weight control; iphones) • Limited evidence for impact on challenging behaviour

  37. iv). Mental health Increase in mental health diagnoses (mainly depression & anxiety) USA: 42% of adolescents; 51% of adults UK: 22% developing new psychiatric problems (mainly in late teens/ early adulthood ) Increase in use of medication over time USA study: 64% of adolescents; 88% of adults on at least one medication;18% of adolescents, 49% of adults on 3 or more meds Once begun medication unlikely to stop (Seltzer et al., 2009; 2010; Howlin et al., 2004;Hutton et al., 2009) 37

  38. Few systematic studies of factors associated with mental health problems in ASD. • Several studies suggest links with stress associated with major life events or transition points (e.g. leaving school, coping with exams/ college /employment) Also: Lack of structure (e.g. when leave school) Disturbances in home/residential life (e.g. sibs leaving home; death of relatives) (Esbensen et al., 2009; Hutton et al.,2008; Stewart et al; 2009)

  39. CBT Several studies indicate success in mainly non-clinical settings. But : Short term follow-up only. Outcome measures rely on parental reports/analogue measures, self reports show less change. No real life assessments- do participants do better in social situations/ office etc.? Huge range of intervention strategies- which are most effective? Reviews, Ho et al., 2014; researchautism.net 39

  40. v). Leisure programmes • Very little research • 2 RCTs (Garcia Villamisar et al., 2010- 2011) • Positive impact on quality of life and emotion recognition.

  41. vi). Supported employment • No RCT’s; 6 non-RCTs (Garcia Villamisar et al., 2000/02/07; Howlin et al., 2005; 2008; Lawer et al., 2009; Mavranezouli et al., 2013) • Improvements in: • job finding and job retention • quality of life • cost effectiveness (compared with non-specialist schemes or standard care)

  42. b) Pharmacological interventions for behavioural management • Mostly extrapolated from studies of children or people with intellectual disability. (15 RCTs; 3 non-RCT).Research quality poor; evidence inconsistent • NICE Recommendation:Do not use to manage core autism symptoms or for behavioural management • For challenging behaviours first line of treatment should be environmental/psychological interventions. • If medication needed, prescribe by specialist; monitor regularly; discontinue if no response in 6 weeks

  43. c) Other interventions • Most data extrapolated from child autism studies • Exclusion diets, vitamins, minerals and supplements • Chelation • Oxytocin • Hyperbaric oxygen therapy • Testosterone regulation • NICE : Do not use for management of core autism symptoms • Transcranial Magnetic Stimulation • NICE: need more research • Facilitated Communication • NICE : Do not use with people with autism

  44. Conclusions- AHRQ (2012) • “A dramatic lack of evidence on therapies for adolescents and young adults” • Families have little in the way of evidence-based approaches to support interventions capable of optimizing the transition from adolescence to adulthood.

  45. What should we be doing? • Improving quantity and quality of adult research- especially related to interventions • Developing social skills programmes & social support systems to ensure more positive effects on real life functioning • Improving therapy for mental health/ emotional problems (e.g. modifying CBT for individuals with very atypical cognitive processes) • Funding long- term interventions with impact on whole life style

  46. Challenges for the future • How to reliably diagnose autism in adults? • How do men and women differ? • How to prevent and/or develop interventions for mental health problems? • (how to modify CBT/Mindfulness programmes; use of adjuncts to therapy – e.g. oxytocin) • We know even less about physical health problems and access to medical care • How to increase rates of participation in employment leisure and other social activities? • How to develop standardised outcome measures?

  47. Cognitive trajectories in later adulthood- patterns of cognitive decline or relative preservation ( e.g. memory skills?) • Criminal justice system- rates of problems; treatment within the CJS; prevention; intervention • Adults with autism among disadvantaged groups • Impact on carers- social, economic, psychological (elderly parents; care staff) • What happens when parents unable to care?

  48. Piven et al(2012) : Need systematic studies on the characteristics (behavioural, neuropsychiatric, and medical) associated with ageing in autism, and potential interventions, both individual and societal, that may improve outcome and quality of life. • If the advances in comprehensive treatment programmes for very young children can be applied across the life span, then children with autism now growing up may face a more positive future.

  49. . • No matter how good, or how widely accessible, diagnostic and intervention services for very young children become, unless educational, health and social services for older individuals improve, the outcome for many adults with autism will remain bleak.

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